Q9ULI2
Gene name |
RIMKLB (FAM80B, KIAA1238) |
Protein name |
Beta-citrylglutamate synthase B |
Names |
N-acetyl-aspartylglutamate synthetase B, NAAG synthetase B, NAAGS, Ribosomal protein S6 modification-like protein B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57494 |
EC number |
6.3.1.17: Acid--ammonia (or amine) ligases (amide synthases) |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9ULI2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9ULI2-F1 | Predicted | AlphaFoldDB |
223 variants for Q9ULI2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6434862 rs758374737 |
2 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 6 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384042145 rs1396900755 |
7 | A>G | No |
ClinGen gnomAD |
|
|
rs779819698 CA6434863 |
8 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892913162 CA232329477 |
10 | W>* | No |
ClinGen Ensembl |
|
|
CA384042200 rs1288334283 |
15 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA384042201 rs746850279 |
15 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6434864 rs746850279 |
15 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288334283 CA384042198 |
15 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768420758 CA6434865 |
16 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1233617997 CA384042215 |
18 | R>G | No |
ClinGen gnomAD |
|
|
CA232329500 rs372596598 |
21 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1274691538 CA384042239 |
21 | Y>H | No |
ClinGen gnomAD |
|
|
rs377131188 CA232329501 |
25 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1214512443 CA384042292 |
28 | R>Q | No |
ClinGen gnomAD |
|
|
rs747795942 CA6434867 |
29 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA384042323 rs1255953972 |
33 | K>I | No |
ClinGen gnomAD |
|
|
CA384042380 rs1420343502 |
41 | F>I | No |
ClinGen gnomAD |
|
|
rs200383619 CA6434872 |
41 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761178360 CA6434873 |
42 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA384042399 rs1345857540 |
44 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 45 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455351989 CA384042415 |
46 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA232329575 rs775159268 |
49 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA384042459 rs1354690634 |
53 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6434875 rs754185655 |
54 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1442367283 CA384042479 |
55 | Q>H | No |
ClinGen gnomAD |
|
|
rs762104772 CA6434876 |
56 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383811356 rs1281260727 COSM263341 |
60 | L>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA383811362 rs1424474258 |
61 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs61999314 CA6434894 |
63 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773288313 CA6434896 |
68 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369858388 CA383811409 |
68 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6434897 rs369858388 |
68 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6434898 rs766445449 |
72 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA383811447 rs1454711969 |
74 | V>A | No |
ClinGen gnomAD |
|
|
rs373818718 CA232629062 |
75 | V>I | No |
ClinGen ESP |
|
|
CA383811460 rs1175450736 |
77 | R>G | No |
ClinGen gnomAD |
|
|
rs1409187820 CA383811498 |
82 | W>C | No |
ClinGen gnomAD |
|
|
rs1329260523 CA383811517 |
85 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 87 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 93 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755841859 CA6434903 |
98 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383811616 rs1442394564 |
99 | G>R | No |
ClinGen gnomAD |
|
|
CA6434904 rs777538451 |
99 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6434905 rs746816555 |
101 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1591883342 CA383811653 |
104 | N>T | No |
ClinGen Ensembl |
|
|
CA232629086 rs375693846 |
105 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs778576626 CA6434907 |
107 | Q>R | No |
ClinGen ExAC |
|
|
CA6434910 rs777249185 |
113 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383811740 rs1240324872 |
117 | W>R | No |
ClinGen gnomAD |
|
|
rs1421387017 CA383811757 |
119 | F>C | No |
ClinGen gnomAD |
|
|
CA6434912 rs770046248 |
119 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 122 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383811785 rs1163779323 |
123 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232629116 rs1047404419 |
125 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs377544500 CA6434914 |
125 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 126 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383811829 rs1565613517 COSM1364734 |
130 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 132 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774439334 CA6434916 |
135 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 145 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6434935 rs772132023 |
146 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232630009 rs374438568 |
147 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 150 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753604050 CA6434939 |
152 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200372425 CA6434940 |
155 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM431951 CA383812052 rs1591895998 |
160 | T>M | lung large_intestine breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1470222763 CA383812055 |
161 | R>Q | No |
ClinGen gnomAD |
|
|
CA383812054 rs1362804825 |
161 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 162 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 166 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375314643 CA232631229 |
171 | A>V | No |
ClinGen ESP |
|
|
CA383812137 rs778474066 COSM1364736 |
172 | R>* | large_intestine Variant assessed as Somatic; 4.639e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs778474066 CA6434957 |
172 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369058701 CA6434958 |
172 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6434959 rs765122719 |
173 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs183093573 CA6434960 |
174 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232631233 rs1014860280 |
175 | H>R | No |
ClinGen Ensembl |
|
|
rs61740936 CA6434961 |
178 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs148505080 CA6434962 |
178 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1250535928 CA383812188 |
180 | L>V | No |
ClinGen gnomAD |
|
|
CA383812196 rs1339739591 |
181 | S>N | No |
ClinGen gnomAD |
|
|
rs1250690951 CA383812204 COSM469022 |
182 | H>R | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6434964 rs754482681 |
184 | I>F | No |
ClinGen ExAC gnomAD |
|
|
COSM944265 rs1591908407 CA383812223 |
185 | R>C | lung large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6434965 rs764559762 |
185 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1328171553 CA383812226 |
186 | H>N | No |
ClinGen TOPMed |
|
|
CA383812230 rs1268715870 |
186 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA232631259 rs1005405168 |
187 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM944266 rs754337339 CA6434966 |
188 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1565618766 CA383812275 |
193 | Q>* | No |
ClinGen Ensembl |
|
|
rs1461022472 CA383812317 |
198 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA383812311 rs1392500127 |
198 | E>K | No |
ClinGen gnomAD |
|
|
CA6434969 rs746179407 |
201 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6434970 rs758576248 |
202 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1294685963 CA383812356 |
205 | R>C | No |
ClinGen gnomAD |
|
|
CA6434972 rs780288602 |
208 | V>A | No |
ClinGen ExAC gnomAD |
|
|
COSM944267 CA383812380 rs1270918303 |
209 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs768771331 CA6434974 |
210 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA383812394 rs1266687362 |
211 | G>D | No |
ClinGen gnomAD |
|
|
rs373258265 CA6434976 |
212 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA6434977 rs748105863 |
212 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243261523 CA383812411 |
214 | V>A | No |
ClinGen TOPMed |
|
|
rs1416018731 CA383812422 |
216 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs760713274 CA6434978 |
218 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1474994941 CA383812435 |
218 | L>V | No |
ClinGen gnomAD |
|
|
rs377695054 CA6434979 |
222 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA232631296 rs976068380 |
222 | T>K | No |
ClinGen Ensembl |
|
|
CA383812469 rs1565402191 |
223 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 223 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762796823 CA6434981 |
228 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs765989645 CA6434982 |
231 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA383812533 rs1212640580 |
232 | L>* | No |
ClinGen TOPMed |
|
|
rs1239471931 CA383814298 |
237 | M>L | No |
ClinGen gnomAD |
|
|
rs1180579466 CA383814322 |
238 | M>I | No |
ClinGen gnomAD |
|
|
rs1479768934 CA383814315 |
238 | M>V | No |
ClinGen gnomAD |
|
|
rs1238864324 CA383814338 |
239 | C>W | No |
ClinGen gnomAD |
|
|
CA383814331 rs1176748201 |
239 | C>Y | No |
ClinGen gnomAD |
|
|
rs763297463 CA383814340 |
240 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763297463 CA6435013 |
240 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411603144 CA383814374 |
242 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 246 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779467477 CA6435017 |
254 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752865143 CA6435018 |
256 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1180684899 CA383814602 |
259 | D>G | No |
ClinGen TOPMed |
|
|
rs2969089 CA383814675 CA383814672 |
264 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383814690 rs2302488 |
266 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383814738 rs1450146679 |
269 | D>E | No |
ClinGen TOPMed |
|
|
CA6435024 rs745610268 |
269 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6435026 rs775097310 |
271 | G>S | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1335274924 CA383814753 |
271 | G>V | No |
ClinGen TOPMed |
|
|
rs1306053301 CA603490302 |
272 | S>N | No |
ClinGen gnomAD |
|
|
CA6435028 rs768147219 |
275 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6435029 rs768147219 |
275 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763533051 CA6435030 |
279 | N>S | No |
ClinGen ExAC |
|
|
rs766750882 CA6435031 |
284 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs751989687 CA6435032 |
285 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252347652 CA383814899 |
285 | I>V | No |
ClinGen gnomAD |
|
|
CA6435034 rs767902044 |
286 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1279691882 CA383814930 |
287 | F>C | No |
ClinGen TOPMed |
|
|
rs1417129841 CA383814937 |
288 | D>H | No |
ClinGen gnomAD |
|
|
rs752955177 CA6435035 |
289 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6435036 rs756330321 |
290 | A>S | No |
ClinGen ExAC |
|
|
CA383814986 rs1435105194 |
291 | C>S | No |
ClinGen TOPMed |
|
|
rs778010986 CA6435037 |
294 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA383815006 rs1565429989 |
294 | D>V | No |
ClinGen Ensembl |
|
|
CA383815024 rs1328787634 |
297 | G>D | No |
ClinGen TOPMed |
|
|
rs753810070 CA6435038 |
298 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 299 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982747575 CA232644085 CA383815052 |
301 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA383815054 rs1157365838 |
302 | Y>H | No |
ClinGen TOPMed |
|
|
rs181443607 CA6435042 |
304 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779746622 CA6435043 |
305 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 306 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258986746 CA383815083 |
307 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 307 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 308 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 309 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776230676 CA383815120 |
310 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs776230676 CA6435046 |
310 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs746088886 CA232644127 |
311 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6435047 rs761192471 |
311 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6435048 rs760873000 |
313 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383815145 rs1592028544 |
313 | T>P | No |
ClinGen Ensembl |
|
|
CA6435049 rs760873000 |
313 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383815157 rs1565430225 |
314 | R>Q | No |
ClinGen Ensembl |
|
|
rs201378504 CA6435050 COSM297710 |
314 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA383815162 rs1425389132 COSM1364739 |
315 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs767992050 CA6435051 |
315 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775937341 CA6435052 |
316 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA383815182 rs1258835058 |
316 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 318 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6435054 rs55776242 |
321 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6435055 rs55776242 |
321 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383815278 rs1399830216 |
324 | T>A | No |
ClinGen gnomAD |
|
|
rs1399830216 CA383815276 |
324 | T>P | No |
ClinGen gnomAD |
|
|
CA6435059 rs185884970 |
328 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6435060 COSM4148988 rs749377963 |
331 | P>L | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6435063 rs780682229 |
335 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6435064 rs780682229 |
335 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6435065 rs769174759 |
336 | P>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 337 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774991258 CA6435066 |
337 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 339 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383815475 rs1484530525 |
340 | A>P | No |
ClinGen gnomAD |
|
|
CA383815483 rs1186421150 |
340 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1481819439 CA383815518 |
343 | N>S | No |
ClinGen Ensembl |
|
|
CA383815533 rs1346092837 |
344 | M>T | No |
ClinGen TOPMed |
|
|
rs1258168251 CA383815571 |
347 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6435070 rs761088763 |
348 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1592029254 CA383815612 |
350 | S>C | No |
ClinGen Ensembl |
|
|
CA232644215 rs764486376 |
351 | V>A | No |
ClinGen Ensembl |
|
|
rs1156276862 CA383815616 |
351 | V>F | No |
ClinGen gnomAD |
|
|
CA383815623 rs1565430569 |
352 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 355 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs188393703 CA6435074 |
358 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6435075 rs188393703 |
358 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6435081 rs754746293 |
360 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs754746293 CA6435079 |
360 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1341261739 CA383815716 |
360 | R>Q | No |
ClinGen gnomAD |
|
|
CA383815742 rs1449162438 |
362 | L>P | No |
ClinGen TOPMed |
|
|
rs1247145087 CA383815753 |
363 | L>R | No |
ClinGen gnomAD |
|
|
rs1388534303 CA383815747 |
363 | L>V | No |
ClinGen TOPMed |
|
|
rs777168606 CA6435083 |
364 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6435082 rs755726796 |
364 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6435084 rs777168606 |
364 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs772745031 CA6435085 |
365 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1592029728 CA383815782 |
366 | L>P | No |
ClinGen Ensembl |
|
|
CA383815814 rs1565430782 |
369 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1592029826 CA383815878 |
374 | N>T | No |
ClinGen Ensembl |
|
|
rs747431632 CA6435087 |
377 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383815929 rs1209362827 |
378 | A>D | No |
ClinGen TOPMed |
|
|
rs1256475233 CA383815924 |
378 | A>T | No |
ClinGen gnomAD |
|
|
CA6435089 rs371604377 |
379 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1210965408 CA383815953 |
380 | E>* | No |
ClinGen TOPMed |
|
|
CA383815971 rs1179128070 |
381 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1293002574 CA383816010 |
385 | V>M | No |
ClinGen TOPMed |
No associated diseases with Q9ULI2
Functions
| Description | ||
|---|---|---|
| EC Number | 6.3.1.17 | Acid--ammonia (or amine) ligases (amide synthases) |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| citrate-L-glutamate ligase activity | Catalysis of the reaction: ATP + citrate + L-glutamate = ADP + phosphate + beta-citryl-L-glutamate. |
| ligase activity, forming carbon-nitrogen bonds | Catalysis of the joining of two molecules, or two groups within a single molecule, via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. |
| metal ion binding | Binding to a metal ion. |
| N-acetyl-L-aspartate-L-glutamate ligase activity | Catalysis of the reaction: ATP + N-acetyl-L-aspartate + L-glutamate = ADP + phosphate + N-acetylaspartyl-glutamate. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| glutamine family amino acid metabolic process | The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. |
| protein modification process | The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0VCE9 | RIMKLB | Beta-citrylglutamate synthase B | Bos taurus (Bovine) | PR |
| Q8IXN7 | RIMKLA | N-acetylaspartylglutamate synthase A | Homo sapiens (Human) | PR |
| Q6PFX8 | Rimkla | N-acetylaspartylglutamate synthase A | Mus musculus (Mouse) | PR |
| Q80WS1 | Rimklb | Beta-citrylglutamate synthase B | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MCSSVAAKLW | FLTDRRIRED | YPQKEILRAL | KAKCCEEELD | FRAVVMDEVV | LTIEQGNLGL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RINGELITAY | PQVVVVRVPT | PWVQSDSDIT | VLRHLEKMGC | RLMNRPQAIL | NCVNKFWTFQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ELAGHGVPLP | DTFSYGGHEN | FAKMIDEAEV | LEFPMVVKNT | RGHRGKAVFL | ARDKHHLADL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SHLIRHEAPY | LFQKYVKESH | GRDVRVIVVG | GRVVGTMLRC | STDGRMQSNC | SLGGVGMMCS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LSEQGKQLAI | QVSNILGMDV | CGIDLLMKDD | GSFCVCEANA | NVGFIAFDKA | CNLDVAGIIA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DYAASLLPSG | RLTRRMSLLS | VVSTASETSE | PELGPPASTA | VDNMSASSSS | VDSDPESTER |
| 370 | 380 | ||||
| ELLTKLPGGL | FNMNQLLANE | IKLLVD |